Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 58513
MIM: 616826
HGNC: 24634
Ensembl: ENSG00000127527
Variants:
dbSNP: 58513
ClinVar: 58513
TCGA: ENSG00000127527
COSMIC: EPS15L1
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 29023680 | 2018 | First direct evidence of involvement of a homozygous loss-of-function variant in the EPS15L1 gene underlying split-hand/split-foot malformation. | 9 |
| 29023680 | 2018 | First direct evidence of involvement of a homozygous loss-of-function variant in the EPS15L1 gene underlying split-hand/split-foot malformation. | 9 |
Citation
Dessen P
EPS15L1 (epidermal growth factor receptor pathway substrate 15 like 1)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/62871/eps15l1-(epidermal-growth-factor-receptor-pathway-substrate-15-like-1)
